Download or read book Mechanisms of Insertion and Deletion Mutations written by Erika Marit Kvikstad and published by . This book was released on 2009 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Despite substantial progress in understanding the molecular mechanisms of origin for nucleotide substitutions, at present we have only a rudimentary understanding of these processes for insertions and deletions. Such knowledge is important because almost a third of all mutations in the Human Gene Mutation Database (http://www.hgmd.org/) are insertions and deletions (indels). Here we use the tools of bioinformatics, statistics and comparative genomics to study indel mutagenesis in detail. We have established a novel computational pipeline to accurately detect insertions and deletions in whole-genome human-chimpanzee alignments using the macaque sequence as an outgroup. This platform has allowed us to address several key questions pertaining to the formation of indels. In particular, this dissertation is organized around three specific questions: 1. What determines the variation in small insertion and deletion rates across the human genome? Genomic factors delineated here distinguish insertion vs. deletion mutagenesis. 2. What are the specific local contexts that contribute to rate differences in small insertions vs. deletions? Specific local sequences are hypothesized to facilitate indel mutations, and to differ between insertions and deletions. 3. What is the mechanism(s) contributing to the observed distribution of transposable elements (TEs) on primate sex chromosomes? Comparisons of sex chromosomes vs. autosomes (combining both their sequence features and retrotransposition history) serve to narrow the alternative scenarios for the evolution of the observed distribution. Results from this research directly contribute to understanding the biological basis for insertion and deletion mutagenesis, with its implications for human genetic diseases. In addition, it aids in the development of improved gap modeling, which is crucial for improving alignment methodology and thus the accuracy of inferences regarding genome evolution.
Download or read book Holland Frei Cancer Medicine written by Robert C. Bast, Jr. and published by John Wiley & Sons. This book was released on 2017-03-10 with total page 2004 pages. Available in PDF, EPUB and Kindle. Book excerpt: Holland-Frei Cancer Medicine, Ninth Edition, offers a balanced view of the most current knowledge of cancer science and clinical oncology practice. This all-new edition is the consummate reference source for medical oncologists, radiation oncologists, internists, surgical oncologists, and others who treat cancer patients. A translational perspective throughout, integrating cancer biology with cancer management providing an in depth understanding of the disease An emphasis on multidisciplinary, research-driven patient care to improve outcomes and optimal use of all appropriate therapies Cutting-edge coverage of personalized cancer care, including molecular diagnostics and therapeutics Concise, readable, clinically relevant text with algorithms, guidelines and insight into the use of both conventional and novel drugs Includes free access to the Wiley Digital Edition providing search across the book, the full reference list with web links, illustrations and photographs, and post-publication updates
Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Download or read book Immunology and Evolution of Infectious Disease written by Steven A. Frank and published by Princeton University Press. This book was released on 2002-07-21 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: Publisher Description
Download or read book Molecular and Cellular Mechanisms of Mutagenesis written by J. Lemontt and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 391 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been nearly 35 years since the peacetime Biology Division of Oak Ridge National Laboratory was started, born of rather inauspicious conditions. Virtually no facilities were available and most of the wartime scientists had left. So, when we started out, it was obvious to me that something had to be done to reestab lish research. Even more, because Oak Ridge was not known at that time for its biological work but rather for the separation of Uranium 235, nuclear reactor development, and radioisotope produc tion, a new tradition had to be promoted. Although good biological work had been done at Oak Ridge during the war to protect the workers and the results of this work were quite excellent, very few installations remained. When we started the work of the Biology Division, it became essential to make it part of the flow of mod~rn biology allover the world. As Director, I had to do more than just attract promising scientists. We created an atmosphere conducive to creative research and nurtured all of the other aspects of a productive laboratory. Of course, we carefully prepared the results of our work in publish able form. We made a sincere effort to invite seminar speakers and lecturers to come to Oak Ridge despite the sacrifices this presented to our early budget. We also had to do something more, and here I "cashed in" on my experience of the previous 15 years.
Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Origins of Genome Architecture written by Michael Lynch and published by Sinauer. This book was released on 2007-06 with total page 518 pages. Available in PDF, EPUB and Kindle. Book excerpt: The availability of genomic blueprints for hundreds of species has led to a transformation in biology, encouraging the proliferation of adaptive arguments for the evolution of genomic features. This text explains why the details matter and presents a framework for how the architectural diversity of eukaryotic genomes and genes came to arise.
Download or read book Genetics for Surgeons written by Patrick John Morrison and published by Remedica. This book was released on 2005 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).
Download or read book Safety of Genetically Engineered Foods written by National Research Council and published by National Academies Press. This book was released on 2004-07-08 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: Assists policymakers in evaluating the appropriate scientific methods for detecting unintended changes in food and assessing the potential for adverse health effects from genetically modified products. In this book, the committee recommended that greater scrutiny should be given to foods containing new compounds or unusual amounts of naturally occurring substances, regardless of the method used to create them. The book offers a framework to guide federal agencies in selecting the route of safety assessment. It identifies and recommends several pre- and post-market approaches to guide the assessment of unintended compositional changes that could result from genetically modified foods and research avenues to fill the knowledge gaps.
Download or read book Long Range Control of Gene Expression written by Veronica van Heyningen and published by Academic Press. This book was released on 2011-09-02 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long-Range Control of Gene Expression covers the current progress in understanding the mechanisms for genomic control of gene expression, which has grown considerably in the last few years as insight into genome organization and chromatin regulation has advanced. Discusses the evolution of cis-regulatory sequences in drosophila Includes information on genomic imprinting and imprinting defects in humans Includes a chapter on epigenetic gene regulation in cancer
Download or read book Handbook of Epigenetics written by Trygve O Tollefsbol and published by Academic Press. This book was released on 2017-07-10 with total page 684 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition, provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. The first edition of this important work received excellent reviews; the second edition continues its comprehensive coverage adding more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology, to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics, to therapeutic interventions for epigenetic-based disorders. Timely and comprehensive collection of fully up-to-date reviews on epigenetics that are organized into one volume and written by leading figures in the field Covers the latest advances in many different areas of epigenetics, ranging from basic aspects, to technologies, to clinical medicine Written at a verbal and technical level that can be understood by scientists and college students Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials
Download or read book Genetic Instabilities and Neurological Diseases written by Robert D. Wells and published by Elsevier. This book was released on 2011-10-13 with total page 783 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases
Download or read book Genomics Circuits and Pathways in Clinical Neuropsychiatry written by Thomas Lehner and published by Academic Press. This book was released on 2016-06-07 with total page 798 pages. Available in PDF, EPUB and Kindle. Book excerpt: This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment
Download or read book Neurogenetics Part II written by and published by Elsevier. This book was released on 2018-01-29 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
Download or read book Cancer Genomics for the Clinician written by Ramaswamy Govindan, MD and published by Springer Publishing Company. This book was released on 2019-01-28 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer Genomics for the Clinician is a practical guide to cancer genomics and its application to cancer diagnosis and care. The book begins with a brief overview of the various types of genetic alterations that are encountered in cancer, followed by accessible and applicable information on next generation sequencing technology and bioinformatics; tumor heterogeneity; whole genome, exome, and transcriptome sequencing; epigenomics; and data analysis and interpretation. Each chapter provides essential explanations of concepts, terminology, and methods. Also included are tips for interpreting and analyzing molecular data, as well as a discussion of molecular predictors for targeted therapies covering hematologic malignancies and solid tumors. The final chapter explains the use of FDA-approved genomic-based targeted therapies for breast cancer, lung cancer, sarcomas, gastrointestinal cancers, urologic cancers, head and neck cancer, thyroid cancer, and many more. Assembled in an accessible format specifically designed for the non-expert, this book provides the clinical oncologist, early career practitioner, and trainee with an essential understanding of the molecular and genetic basis of cancer and the clinical aspects that have led to advancements in diagnosis and treatment. With this resource, physicians and trainees will increase their breadth of knowledge and be better equipped to educate patients and families who want to know more about their genetic predispositions to cancer and the targeted therapies that could be considered and prescribed. Key Features: Describes how cancer genomics and next generation sequencing informs cancer screening, risk factors, therapeutic options, and clinical management across cancer types Explains what mutations are, what tests are needed, and how to interpret the results Provides information on FDA-approved targeted therapies that are being used in the clinic Covers different sequencing platforms and technologies and how they perform in research settings Includes access to the fully searchable eBook
Download or read book Cell Biology by the Numbers written by Ron Milo and published by Garland Science. This book was released on 2015-12-07 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Top 25 CHOICE 2016 Title, and recipient of the CHOICE Outstanding Academic Title (OAT) Award. How much energy is released in ATP hydrolysis? How many mRNAs are in a cell? How genetically similar are two random people? What is faster, transcription or translation?Cell Biology by the Numbers explores these questions and dozens of others provid
Download or read book Emerging Trends in Computational Biology Bioinformatics and Systems Biology written by Hamid R Arabnia and published by Morgan Kaufmann. This book was released on 2015-08-11 with total page 670 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emerging Trends in Computational Biology, Bioinformatics, and Systems Biology discusses the latest developments in all aspects of computational biology, bioinformatics, and systems biology and the application of data-analytics and algorithms, mathematical modeling, and simu- lation techniques. • Discusses the development and application of data-analytical and theoretical methods, mathematical modeling, and computational simulation techniques to the study of biological and behavioral systems, including applications in cancer research, computational intelligence and drug design, high-performance computing, and biology, as well as cloud and grid computing for the storage and access of big data sets. • Presents a systematic approach for storing, retrieving, organizing, and analyzing biological data using software tools with applications to general principles of DNA/RNA structure, bioinformatics and applications, genomes, protein structure, and modeling and classification, as well as microarray analysis. • Provides a systems biology perspective, including general guidelines and techniques for obtaining, integrating, and analyzing complex data sets from multiple experimental sources using computational tools and software. Topics covered include phenomics, genomics, epigenomics/epigenetics, metabolomics, cell cycle and checkpoint control, and systems biology and vaccination research. • Explains how to effectively harness the power of Big Data tools when data sets are so large and complex that it is difficult to process them using conventional database management systems or traditional data processing applications. Discusses the development and application of data-analytical and theoretical methods, mathematical modeling and computational simulation techniques to the study of biological and behavioral systems. Presents a systematic approach for storing, retrieving, organizing and analyzing biological data using software tools with applications. Provides a systems biology perspective including general guidelines and techniques for obtaining, integrating and analyzing complex data sets from multiple experimental sources using computational tools and software.
